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Dilated Cardiomyopathy v0.65 | JUP | Zornitza Stark Marked gene: JUP as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Dilated Cardiomyopathy v0.65 | JUP | Zornitza Stark Added comment: Comment when marking as ready: Note DCM is also a feature of Naxos disease, though additional features also present. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Dilated Cardiomyopathy v0.65 | JUP | Zornitza Stark Gene: jup has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Dilated Cardiomyopathy v0.65 | JUP | Zornitza Stark Phenotypes for gene: JUP were changed from Arrhythmogenic right ventricular dysplasia 12 (MIM#611528) to Arrhythmogenic right ventricular dysplasia 12 (MIM#611528); Naxos disease, MIM# 601214 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Dilated Cardiomyopathy v0.64 | JUP | Zornitza Stark Classified gene: JUP as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Dilated Cardiomyopathy v0.64 | JUP | Zornitza Stark Gene: jup has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Dilated Cardiomyopathy v0.63 | JUP | Zornitza Stark Mode of inheritance for gene: JUP was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Dilated Cardiomyopathy v0.55 | JUP |
Paul De Fazio gene: JUP was added gene: JUP was added to Dilated Cardiomyopathy. Sources: Literature Mode of inheritance for gene: JUP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: JUP were set to Arrhythmogenic right ventricular dysplasia 12 (MIM#611528) Review for gene: JUP was set to AMBER gene: JUP was marked as current diagnostic Added comment: Definitive for ARVC by ClinGen but no association with DCM that I can find. This gene is green on PanelApp GEL DCM panel due to phenotypic overlap. Sources: Literature |